Browse by author
Lookup NU author(s): Dr Joanna Elson
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC 4.0).
Mitochondrial DNA (mtDNA) Haplogroup (hg) H has been reported as a susceptibility factor for hypertrophic cardiomyopathy (HCM). This was established in genetic association studies, however, the SNP or SNP’s that are associated with the increased risk have not been identified. Hg H is the most frequent European mtDNA hg with at greater than 80 subhaplogroups (subhgs) each defined by specific SNPs. We tested the hypothesis that the distribution of H subhgs might differ between HCM patients and controls. The subhg H distribution in 55 HCM index cases was compared to that of two Danish mtDNA hg H control groups (n = 170 and n = 908, respectively). In the HCM group, H and 12 different H subhgs were found. All these, except subhgs H73, were also found in both control groups. The HCM group was also characterised by a higher proportion of H3 compared to H2. In the HCM group the H3/H2 proportion was 1.7, whereas it was 0.45 and 0.54 in the control groups. This tendency was replicated in an independent group of Hg H HCM index cases (n = 39) from Queensland, Australia, where the H3/H2 ratio was 1.5. In conclusion, the H subhgs distribution differs between HCM cases and controls, but the difference is subtle, and the understanding of the pathogenic significance is hampered by the lack of functional studies on the subhgs of H.
Author(s): Hagen CM, Elson JL, Aidt HF, Havndrup O, Jensen MK, Kanters JK, Atherton JJ, McGaughran J, Bundgaard J, Christiansen M
Publication type: Article
Publication status: Published
Journal: Mitochondrial DNA Part A
Online publication date: 30/06/2020
Acceptance date: 05/06/2020
Date deposited: 25/06/2020
ISSN (print): 2470-1394
ISSN (electronic): 2470-1408
Publisher: Taylor & Francis
Altmetrics provided by Altmetric